CORDIS Project
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This project investigates genetic mutations affecting light-sensing proteins in the retina, which lead to severe vision loss. It aims to understand the cellular mechanisms behind these defects using mouse models to explore potential therapeutic strategies.
Genetic defects in proteins involved in the transduction of light in photoreceptor cells of the retina lead to severe retinal degenerations and blindness.
Mutations that primarily affect rod function lead to retinitis pigmentosas.
These diseases affect 1 in 4000 individuals, initially causing night blindness.
As the gradual loss of rods eventually compromises cone cell viability, they lead to blindness.
Mutations that affect cone function lead to cone dystrophies (CDs) or macular degenerati…
FUNDACIO INSTITUT D'INVESTIGACIO BIOMEDICA DE BELLVITGE
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